Incidental Mutation 'R4303:Tax1bp1'
| ID |
322491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tax1bp1
|
| Ensembl Gene |
ENSMUSG00000004535 |
| Gene Name |
Tax1 (human T cell leukemia virus type I) binding protein 1 |
| Synonyms |
1700069J21Rik, TXBP151, D6Ertd772e, 1200003J11Rik, T6BP, D6Ertd404e |
| MMRRC Submission |
041090-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R4303 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
52690714-52743765 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52704263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 81
(V81A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080723]
[ENSMUST00000129660]
[ENSMUST00000138040]
[ENSMUST00000149588]
|
| AlphaFold |
Q3UKC1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080723
AA Change: V81A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000079548
Gene: ENSMUSG00000004535
AA Change: V81A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
15 |
416 |
2.6e-92 |
PFAM |
|
coiled coil region
|
569 |
620 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
753 |
778 |
7.57e1 |
SMART |
|
ZnF_C2H2
|
780 |
805 |
3.21e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128173
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129660
AA Change: V81A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122922
Gene: ENSMUSG00000004535
AA Change: V81A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
11 |
87 |
3.2e-30 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138040
AA Change: V81A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119522
Gene: ENSMUSG00000004535
AA Change: V81A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
11 |
172 |
8.5e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149588
AA Change: V81A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000116059
Gene: ENSMUSG00000004535
AA Change: V81A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CALCOCO1
|
11 |
161 |
2.3e-55 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203787
|
| Meta Mutation Damage Score |
0.1065 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation of this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition of inflammatory signaling pathways. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
PHENOTYPE: Knockout mice are born alive but fail to thrive and develop inflammatory cardiac valvulitis and dermatitis, die prematurely, and are hypersensitive to low doses of TNF and IL-1beta. In contrast, embryos homozygous for a gene trap mutation die at E13.5 from hemorrhaging and/or cardiac defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
C |
5: 24,606,055 (GRCm39) |
S247P |
probably damaging |
Het |
| Atg4b |
A |
G |
1: 93,695,984 (GRCm39) |
E41G |
probably benign |
Het |
| Bckdk |
T |
C |
7: 127,504,502 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
A |
G |
5: 16,507,246 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
A |
G |
17: 56,351,068 (GRCm39) |
D16G |
unknown |
Het |
| Defb12 |
A |
G |
8: 19,162,737 (GRCm39) |
I65T |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,787,738 (GRCm39) |
Y3264H |
probably damaging |
Het |
| Ehhadh |
C |
A |
16: 21,581,602 (GRCm39) |
K463N |
probably damaging |
Het |
| Ehmt2 |
G |
A |
17: 35,127,724 (GRCm39) |
R901Q |
possibly damaging |
Het |
| Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
| Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
| Ern2 |
T |
C |
7: 121,777,069 (GRCm39) |
|
probably null |
Het |
| Esp6 |
A |
G |
17: 40,876,035 (GRCm39) |
T28A |
possibly damaging |
Het |
| Gm17333 |
A |
C |
16: 77,649,767 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5a |
T |
C |
12: 52,003,008 (GRCm39) |
T165A |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,181,240 (GRCm39) |
S31G |
probably benign |
Het |
| Ift80 |
A |
G |
3: 68,801,507 (GRCm39) |
I744T |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,055,761 (GRCm39) |
K853E |
probably damaging |
Het |
| Krt36 |
A |
T |
11: 99,994,239 (GRCm39) |
D279E |
possibly damaging |
Het |
| Map3k11 |
T |
A |
19: 5,740,852 (GRCm39) |
V193E |
probably damaging |
Het |
| Mrgpra4 |
T |
A |
7: 47,630,684 (GRCm39) |
M306L |
probably benign |
Het |
| Myo1a |
A |
G |
10: 127,549,602 (GRCm39) |
T428A |
probably benign |
Het |
| Nuggc |
A |
G |
14: 65,848,621 (GRCm39) |
H174R |
possibly damaging |
Het |
| Or14c40 |
G |
A |
7: 86,313,163 (GRCm39) |
V98M |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,664 (GRCm39) |
M163K |
possibly damaging |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Pik3ca |
C |
T |
3: 32,494,084 (GRCm39) |
R349* |
probably null |
Het |
| Rfxank |
T |
C |
8: 70,588,862 (GRCm39) |
D89G |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGTGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Serpina1a |
A |
G |
12: 103,820,934 (GRCm39) |
L348P |
probably damaging |
Het |
| Shank1 |
A |
G |
7: 43,991,898 (GRCm39) |
Y701C |
unknown |
Het |
| Six4 |
G |
T |
12: 73,159,314 (GRCm39) |
D207E |
possibly damaging |
Het |
| Slco3a1 |
G |
T |
7: 74,204,276 (GRCm39) |
D21E |
probably benign |
Het |
| Sox6 |
C |
T |
7: 115,143,704 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
G |
1: 174,007,418 (GRCm39) |
N216S |
probably damaging |
Het |
| Stard13 |
T |
C |
5: 150,986,334 (GRCm39) |
N392S |
possibly damaging |
Het |
| Trim29 |
G |
T |
9: 43,222,419 (GRCm39) |
V83L |
probably damaging |
Het |
| Vmn1r90 |
C |
T |
7: 14,295,495 (GRCm39) |
W201* |
probably null |
Het |
| Wdr31 |
T |
A |
4: 62,378,626 (GRCm39) |
N7I |
probably damaging |
Het |
| Ypel4 |
A |
G |
2: 84,567,151 (GRCm39) |
|
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,780,843 (GRCm39) |
K640E |
probably damaging |
Het |
| Zfp579 |
A |
G |
7: 4,996,072 (GRCm39) |
|
probably benign |
Het |
| Zfp974 |
C |
A |
7: 27,609,657 (GRCm39) |
K689N |
possibly damaging |
Het |
|
| Other mutations in Tax1bp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02383:Tax1bp1
|
APN |
6 |
52,730,351 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03177:Tax1bp1
|
APN |
6 |
52,713,932 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0836:Tax1bp1
|
UTSW |
6 |
52,718,925 (GRCm39) |
splice site |
probably benign |
|
|
R1119:Tax1bp1
|
UTSW |
6 |
52,718,933 (GRCm39) |
splice site |
probably benign |
|
|
R1456:Tax1bp1
|
UTSW |
6 |
52,721,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1465:Tax1bp1
|
UTSW |
6 |
52,704,179 (GRCm39) |
splice site |
probably benign |
|
|
R1484:Tax1bp1
|
UTSW |
6 |
52,710,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1661:Tax1bp1
|
UTSW |
6 |
52,713,897 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1665:Tax1bp1
|
UTSW |
6 |
52,713,897 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1712:Tax1bp1
|
UTSW |
6 |
52,706,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Tax1bp1
|
UTSW |
6 |
52,698,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:Tax1bp1
|
UTSW |
6 |
52,742,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2496:Tax1bp1
|
UTSW |
6 |
52,735,342 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3782:Tax1bp1
|
UTSW |
6 |
52,716,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3804:Tax1bp1
|
UTSW |
6 |
52,719,770 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4238:Tax1bp1
|
UTSW |
6 |
52,743,036 (GRCm39) |
nonsense |
probably null |
|
|
R4665:Tax1bp1
|
UTSW |
6 |
52,714,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4870:Tax1bp1
|
UTSW |
6 |
52,706,478 (GRCm39) |
intron |
probably benign |
|
|
R5009:Tax1bp1
|
UTSW |
6 |
52,706,478 (GRCm39) |
intron |
probably benign |
|
|
R5965:Tax1bp1
|
UTSW |
6 |
52,706,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Tax1bp1
|
UTSW |
6 |
52,721,341 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6328:Tax1bp1
|
UTSW |
6 |
52,723,694 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6338:Tax1bp1
|
UTSW |
6 |
52,706,361 (GRCm39) |
nonsense |
probably null |
|
|
R6886:Tax1bp1
|
UTSW |
6 |
52,710,208 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7251:Tax1bp1
|
UTSW |
6 |
52,698,341 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7531:Tax1bp1
|
UTSW |
6 |
52,723,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8225:Tax1bp1
|
UTSW |
6 |
52,721,340 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9138:Tax1bp1
|
UTSW |
6 |
52,718,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9261:Tax1bp1
|
UTSW |
6 |
52,714,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9391:Tax1bp1
|
UTSW |
6 |
52,735,220 (GRCm39) |
nonsense |
probably null |
|
|
R9455:Tax1bp1
|
UTSW |
6 |
52,743,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9459:Tax1bp1
|
UTSW |
6 |
52,706,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Tax1bp1
|
UTSW |
6 |
52,704,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF020:Tax1bp1
|
UTSW |
6 |
52,698,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGCATATTTTAACTTTAGGGTGT -3'
(R):5'- CCTGCAACACAACCTTTTCTTAAG -3'
Sequencing Primer
(F):5'- TTGGATGGAGTACTGCTC -3'
(R):5'- GCAGTGTTCTGAGTAGCTATGAAAAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation